MEFV遺伝子異常に関連する消化管病変

Mediterranean Fever（MEFV）Gene-Related Enterocolitis

要旨●筆者らは，地中海熱（MEFV）遺伝子関連腸炎（IL-1β関連腸炎）の診断法の確立ならびに機序解明に取り組んできた．MEFV遺伝子関連腸炎74症例の患者群を検討した結果，日本人MEFV遺伝子関連腸炎症例の70%以上がexon 2部位での変異を有し，家族性地中海熱非定型例および診断基準を満たさない症例が全体の約70%を占めることが判明した．消化管病変の内視鏡的特徴所見では，直腸に病変を伴わない潰瘍性大腸炎様の連続病変の粘膜所見が多く，またCrohn病様の縦走潰瘍・狭窄例も存在することが明らかとなった．MEFV遺伝子関連腸炎は，炎症性腸疾患患者の中に予想以上に多く存在する可能性が高く，筆者らのデータを基盤に診断基準の作成に取り組む必要がある．

　We are currently establishing diagnostic methods and elucidating the underlying mechanism of Mediterranean fever gene-related enteritis, i.e., interleukin 1β-related enterocolitis. The analysis of clinical characteristics of 74 patients with MEFV gene-related enterocolitis revealed that more than 70% of the patients harbored mutations in exon 2 of MEFV. Approximately 70 % of the patients had atypical presentation of familial Mediterranean fever or did not fulfill the modified Tel-Hashomer diagnostic criteria. The endoscopic examination of gastrointestinal lesions revealed that 68 % of the patients had mucosal features of ulcerative colitis-like lesions without the involvement of rectum ; some patients had longitudinal ulcers and stenosis similar to those observed in Crohn's disease. Patients with MEFV gene-related enterocolitis are likely to be more than expected among patients diagnosed with inflammatory bowel disease unclassified. Therefore, it is necessary to establish the diagnostic criteria of MEFV gene-related enterocolitis based on our current data.